rs2228645
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2228645(C;T) |
| Make rs2228645(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 18539442 |
| Gene | CACNB2, NSUN6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228645 |
| dbSNP (classic) | rs2228645 |
| ClinGen | rs2228645 |
| ebi | rs2228645 |
| HLI | rs2228645 |
| Exac | rs2228645 |
| Gnomad | rs2228645 |
| Varsome | rs2228645 |
| LitVar | rs2228645 |
| Map | rs2228645 |
| PheGenI | rs2228645 |
| Biobank | rs2228645 |
| 1000 genomes | rs2228645 |
| hgdp | rs2228645 |
| ensembl | rs2228645 |
| geneview | rs2228645 |
| scholar | rs2228645 |
| rs2228645 | |
| pharmgkb | rs2228645 |
| gwascentral | rs2228645 |
| openSNP | rs2228645 |
| 23andMe | rs2228645 |
| SNPshot | rs2228645 |
| SNPdbe | rs2228645 |
| MSV3d | rs2228645 |
| GWAS Ctlg | rs2228645 |
| GMAF | 0.2172 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23744328] [Association between CACNB2 gene polymorphisms and essential hypertension]
| ClinVar | |
|---|---|
| Risk | rs2228645(A;A) rs2228645(T;T) |
| Alt | rs2228645(A;A) rs2228645(T;T) |
| Reference | Rs2228645(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Cardiovascular phenotype not specified Brugada syndrome |
| Variation | info |
| Gene | CACNB2 |
| CLNDBN | Cardiovascular phenotype not specified Brugada syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.18828371C>T |
| CLNSRC | |
| CLNACC | RCV000250713.1, RCV000253602.1, RCV000272242.1, |
